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rs794729215

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs794729215(A;A)
Make rs794729215(A;C)
ReferenceGRCh38.p2 38.2/146
Chromosome16
Position74774639
GeneFA2H
is asnp
is mentioned by
dbSNPrs794729215
dbSNP (classic)rs794729215
ClinGenrs794729215
ebirs794729215
HLIrs794729215
Exacrs794729215
Gnomadrs794729215
Varsomers794729215
LitVarrs794729215
Maprs794729215
PheGenIrs794729215
Biobankrs794729215
1000 genomesrs794729215
hgdprs794729215
ensemblrs794729215
geneviewrs794729215
scholarrs794729215
googlers794729215
pharmgkbrs794729215
gwascentralrs794729215
openSNPrs794729215
23andMers794729215
SNPshotrs794729215
SNPdbers794729215
MSV3drs794729215
GWAS Ctlgrs794729215
Max Magnitude0
ClinVar
Risk rs794729215(A;A)
Alt rs794729215(A;A)
Reference Rs794729215(C;C)
Significance Probable-Pathogenic
Disease Spastic paraplegia 35
Variation info
Gene FA2H
CLNDBN Spastic paraplegia 35
Reversed 1
HGVS NC_000016.9:g.74808537G>T
CLNSRC
CLNACC RCV000184035.1,